rs2764980
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000669318.1(LINC02668):n.1945+2752T>C variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.467 in 152,116 control chromosomes in the GnomAD database, including 17,624 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
ENST00000669318.1 intron, non_coding_transcript
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
LINC02668 | XR_001747318.3 | n.1945+2752T>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
LINC02668 | ENST00000669318.1 | n.1945+2752T>C | intron_variant, non_coding_transcript_variant | |||||||
LINC02668 | ENST00000417149.2 | n.981-1313T>C | intron_variant, non_coding_transcript_variant | 3 | ||||||
LINC02668 | ENST00000655354.1 | n.633-1313T>C | intron_variant, non_coding_transcript_variant | |||||||
LINC02668 | ENST00000665182.1 | n.633-1313T>C | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.467 AC: 70981AN: 151998Hom.: 17601 Cov.: 33
GnomAD4 genome AF: 0.467 AC: 71042AN: 152116Hom.: 17624 Cov.: 33 AF XY: 0.480 AC XY: 35653AN XY: 74352
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at